IPO
MCID: INT072
MIFTS: 56

Intestinal Pseudo-Obstruction (IPO)

Categories: Fetal diseases, Gastrointestinal diseases, Rare diseases
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Aliases & Classifications for Intestinal Pseudo-Obstruction

MalaCards integrated aliases for Intestinal Pseudo-Obstruction:

Name: Intestinal Pseudo-Obstruction 11 19 42 75 28 53 5 43 14 16 71
Chronic Intestinal Pseudoobstruction 19 58 28 5
Chronic Intestinal Pseudo-Obstruction 11 53 71
Cipo 19 42 58
Neuronal Intestinal Dysplasia 11 71
Familial Visceral Neuropathy 42 71
Hollow Visceral Myopathy 19 71
Paralytic Ileus 42 71
Congenital Idiopathic Intestinal Pseudoobstruction 71
Chronic Idiopathic Intestinal Pseudo-Obstruction 42
Pseudointestinal Obstruction Syndrome 42
Congenital Short Bowel Syndrome 42
Pseudo-Obstruction of Intestine 42
Intestinal Pseudoobstruction 19
Visceral Myopathy, Familial 71
Familial Visceral Myopathy 42
Pseudoobstructive Syndrome 42
Enteric Neuropathy 42
Ciip 42
Ipo 42

Characteristics:


Age Of Onset:

Chronic Intestinal Pseudoobstruction: All ages 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 11 DOID:0080072
MeSH 43 D007418
NCIt 49 C34733
SNOMED-CT 68 235825006
ICD10 via Orphanet 32 K59.8
UMLS via Orphanet 72 C0238062
Orphanet 58 ORPHA2978
UMLS 71 C0021847 C0030446 C0238062 more

Summaries for Intestinal Pseudo-Obstruction

MedlinePlus Genetics: 42 Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).Intestinal pseudo-obstruction leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those of an intestinal blockage (obstruction), but in intestinal pseudo-obstruction no blockage is found.Depending on the cause of intestinal pseudo-obstruction, affected individuals can have additional signs and symptoms. Some people with intestinal pseudo-obstruction have bladder dysfunction such as an inability to pass urine. Other features may include decreased muscle tone (hypotonia) or stiffness (spasticity) of the torso and limbs, weakness in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections.When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic intestinal pseudo-obstruction. The disorder can also develop as a complication of another health problem; in these cases, it is called secondary intestinal pseudo-obstruction. The condition can be episodic (acute) or persistent (chronic).

MalaCards based summary: Intestinal Pseudo-Obstruction, also known as chronic intestinal pseudoobstruction, is related to visceral myopathy 1 and congenital short bowel syndrome, and has symptoms including vomiting An important gene associated with Intestinal Pseudo-Obstruction is ACTG2 (Actin Gamma 2, Smooth Muscle), and among its related pathways/superpathways are Signal Transduction and Neural crest differentiation. The drugs Prucalopride and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, smooth muscle and small intestine, and related phenotypes are intestinal malrotation and pyloric stenosis

GARD: 19 Chronic intestinal pseudo-obstruction (CIPO) is a rare disease characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. Problems with nerves, muscles, or interstitial cells of Cajal (the cells that set the pace of intestinal contractions) prevent normal contractions and cause problems with the movement of food, fluid, and air through the intestines. The most common symptoms are abdominal swelling or bloating (distention), vomiting, abdominal pain, failure to thrive, diarrhea, constipation, feeding intolerance and urinary symptoms. CIPO can occur in people of any age. It may be primary or secondary. Primary or idiopathic (where the cause is unknown) CIPO occurs by itself. Secondary CIPO develops as a complication of another medical condition. In some people with CIPO, the condition is caused by variations affecting the FLNA or ACTG2 gene. Before making the diagnosis other conditions with similar symptoms should be ruled out.

Orphanet: 58 Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.

Disease Ontology: 11 A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.

Wikipedia: 75 Intestinal pseudo-obstruction (IPO) is a clinical syndrome caused by severe impairment in the ability of... more...

Related Diseases for Intestinal Pseudo-Obstruction

Diseases in the Intestinal Obstruction family:

Intestinal Pseudo-Obstruction

Diseases related to Intestinal Pseudo-Obstruction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 636)
# Related Disease Score Top Affiliating Genes
1 visceral myopathy 1 33.0 MYH11 LMOD1 ACTG2
2 congenital short bowel syndrome 32.3 LOC112042785 FLNA CLMP
3 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 32.3 TYMP SGO1 POLG MYH11 LMOD1 FLNA
4 intestinal obstruction 31.5 SGO1 RET FLNA EDNRB EDN3 ALB
5 myopathy 31.5 TYMP POLG MYH11 MT-TL1 LMOD1 ALB
6 microcolon 31.3 MYH11 LMOD1 ACTG2
7 mitochondrial neurogastrointestinal encephalomyopathy 31.1 TYMP POLG
8 hirschsprung disease 1 31.0 TLX2 SOX10 RET EDNRB EDN3 ALB
9 hydronephrosis 31.0 MYH11 LMOD1 ALB ACTG2
10 superior mesenteric artery syndrome 30.8 TYMP MLNR ALB
11 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 30.7 SOX10 EDNRB EDN3
12 megacolon 30.6 TLX2 SOX10 RET EDNRB EDN3
13 waardenburg's syndrome 30.6 SOX10 RET EDNRB EDN3
14 waardenburg syndrome, type 4c 30.5 SOX10 EDNRB EDN3
15 waardenburg syndrome, type 2e 30.4 SOX10 EDNRB EDN3
16 patent ductus arteriosus 1 30.4 TFAP2B MYH11 FLNA ALB
17 chronic progressive external ophthalmoplegia 30.4 TYMP POLG MT-TL1
18 waardenburg syndrome, type 4a 30.4 SOX10 RET EDNRB EDN3
19 diabetic autonomic neuropathy 30.4 MLNR ALB
20 visceral myopathy 2 30.3 NDE1 MYH11
21 mitochondrial encephalomyopathy 30.3 TYMP POLG MT-TL1
22 mitral valve insufficiency 30.3 NDE1 MYH11 ALB
23 gastrointestinal stromal tumor 30.3 SOX10 RET MYH11 ALB
24 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 30.1 TYMP POLG
25 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 11.8
26 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth 11.7
27 chronic atrial and intestinal dysrhythmia 11.7
28 x-linked chronic idiopathic intestinal pseudo-obstruction 11.7
29 mitochondrial dna depletion syndrome 4b 11.5
30 systemic scleroderma 11.3
31 actg2 visceral myopathy 11.3
32 mungan syndrome 11.3
33 neuronal intestinal dysplasia, type b 11.2
34 neuronal intestinal dysplasia type a 11.2
35 autosomal dominant familial visceral neuropathy 11.2
36 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome 11.2
37 visceral neuropathy, familial, 2, autosomal recessive 11.2
38 myopathic intestinal pseudoobstruction 11.2
39 unclassified intestinal pseudoobstruction 11.2
40 visceral leiomyopathy, african degenerative 11.1
41 ileus 10.7
42 systemic lupus erythematosus 10.7
43 lupus erythematosus 10.7
44 systemic lupus erythematosus 1 10.7
45 amyloidosis 10.6
46 scleroderma, familial progressive 10.6
47 overgrowth syndrome 10.6
48 nutritional deficiency disease 10.5
49 gastrointestinal system disease 10.5
50 diarrhea 10.5

Graphical network of the top 20 diseases related to Intestinal Pseudo-Obstruction:



Diseases related to Intestinal Pseudo-Obstruction

Symptoms & Phenotypes for Intestinal Pseudo-Obstruction

Human phenotypes related to Intestinal Pseudo-Obstruction:

58 30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intestinal malrotation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002566
2 pyloric stenosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002021
3 abnormal nervous system morphology 30 Frequent (33%) HP:0012639
4 patent ductus arteriosus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001643
5 abnormal platelet morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011875
6 abnormality of nervous system morphology 58 Frequent (79-30%)
7 abnormal intestine morphology 58 Very frequent (99-80%)

UMLS symptoms related to Intestinal Pseudo-Obstruction:


vomiting

MGI Mouse Phenotypes related to Intestinal Pseudo-Obstruction:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.9 ALB CLMP EDN3 EDNRB FLNA MYH11
2 cellular MP:0005384 9.7 ALB EDNRB FLNA MYH11 NDE1 POLG
3 mortality/aging MP:0010768 9.44 ALB CLMP EDN3 EDNRB FLNA MYH11

Drugs & Therapeutics for Intestinal Pseudo-Obstruction

Drugs for Intestinal Pseudo-Obstruction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prucalopride Approved Phase 3 179474-81-8 3052762
2 Gastrointestinal Agents Phase 3
3 Cathartics Phase 3
4 Neurotransmitter Agents Phase 3
5 Laxatives Phase 3
6 Serotonin Receptor Agonists Phase 3
7
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
8
Rifaximin Approved, Investigational Phase 2 80621-81-4 46783403 6436173
9 Pharmaceutical Solutions Phase 2
10 Anti-Bacterial Agents Phase 2
11 Anti-Infective Agents Phase 2

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Efficacy of Prucalopride in Critically Ill Patients With Paralytic Ileus; a Pilot Randomized Double-blind Controlled Trial Unknown status NCT04190173 Phase 3 Prucalopride;Placebo
2 The Effects of Gum Chewing on Bowel Function Recovery Following Cesarean Section: Randomized Controlled Trial Completed NCT01131416 Phase 2, Phase 3
3 Effects of Gum Chewing on Recovery of Bowel Function Following Abdominal Surgery for Endometrial and Ovarian Cancer: a Randomized Controlled Trial Withdrawn NCT01389986 Phase 2, Phase 3
4 Effect of Daikenchuto (TJ-100) on Intestinal Dysmotility and For the Prevention of Postoperative Paralytic Ileus in Patients Undergoing Pancreaticoduodenectomy: A Multicenter, Randomized, Placebo-Controlled Phase II Trial Unknown status NCT01607307 Phase 2 Oral/enteral TJ-100 solution;Oral/enteral placebo solution
5 A Double-Blind, Placebo-Controlled, Cross-Over, Multiple (n=1) Trial to Evaluate the Effects of R093877 in Patients With Chronic Intestinal Pseudo-Obstruction (CIP). Completed NCT00793247 Phase 2 PRU-PLA-PRU-PLA;PLA-PRU-PLA-PRU;PLA-PRU-PRU-PLA;PRU-PLA-PLA-PRU
6 Efficacy and Safety of Rifaximin for Patients With Chronic Intestinal Pseudo-obstruction: a Single Center, Randomized, Placebo Controlled, Double-blind Phase 2 Trial Active, not recruiting NCT04118699 Phase 2 Rifaximin oral tablet;Placebo oral tablet
7 Acupuncture to Prevent Postoperative Paralytic Ileus Terminated NCT00065234 Phase 2
8 Effects of Laser Acupuncture Therapy on Paralytic Ileus Unknown status NCT03041675
9 Gum Chewing Reduces the Risk of Postoperative Ileus After Arthroplasty Procedures in The Elderly Population: A Parallel Design, Open-Label, Randomized Controlled Trial Unknown status NCT04489875
10 Diagnostic Accuracy of Increased Serum Cytokine Levels as a Marker of Paralytic Ileus Following Robotic Radical Cystectomy Unknown status NCT03982498
11 Efficacy and Safety of Fecal Microbiota Transplantation in Treatment of Chronic Intestinal Pseudo-obstruction: a Preliminary Study Completed NCT02731183
12 Randomized Controlled Trial of Rib Raising as Early Treatment for Post-operative Ileus Completed NCT03662672
13 The Effect of Postoperative Chewing Gum on Intestinal Functions After Gynecological Laparoscopic Surgery Completed NCT03884244
14 Effectiveness of Gum Chewing on Reduction of Postoperative Paralytic Ileus for Chinese Colorectal Cancer Patients Underwent Laparoscopic Colorectal Surgery and Enhanced Recovery Program Completed NCT02419586
15 A Case-control Study of the Gastrointestinal Response to a Liquid Test Meal in Chronic Intestinal Pseudo-obstruction, Using Magnetic Resonance Imaging Recruiting NCT04193735
16 Gastrointestinal Motility Diagnosis Registry Recruiting NCT04506593
17 Improved Quality of Life in Children With Intestinal Failure - a Randomised Intervention Trial Recruiting NCT04981262
18 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
19 The Rare Disease Clinical Research Network Natural History Study of MNGIE Recruiting NCT01694953

Search NIH Clinical Center for Intestinal Pseudo-Obstruction

Cochrane evidence based reviews: intestinal pseudo-obstruction

Genetic Tests for Intestinal Pseudo-Obstruction

Genetic tests related to Intestinal Pseudo-Obstruction:

# Genetic test Affiliating Genes
1 Intestinal Pseudo-Obstruction 28
2 Chronic Intestinal Pseudoobstruction 28

Anatomical Context for Intestinal Pseudo-Obstruction

Organs/tissues related to Intestinal Pseudo-Obstruction:

MalaCards : Eye, Smooth Muscle, Small Intestine, Colon, Spinal Cord, Lung, Liver

Publications for Intestinal Pseudo-Obstruction

Articles related to Intestinal Pseudo-Obstruction:

(show top 50) (show all 3043)
# Title Authors PMID Year
1
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. 62 5
28422808 2017
2
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. 62 5
27352967 2016
3
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. 62 5
26813947 2016
4
ACTG2 Visceral Myopathy 62 5
26072522 2015
5
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 62 5
24676022 2014
6
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). 5
25998219 2015
7
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. 5
24337657 2014
8
[Intestinal pseudo-obstruction associated with polymyositis successfully treated with somatostatin analog]. 53 62
18323156 2008
9
Gastric adenocarcinoma presenting with intestinal pseudoobstruction, successfully treated with octreotide. 53 62
17090868 2006
10
Octreotide treatment for paraneoplastic intestinal pseudo-obstruction complicating SCLC. 53 62
15777981 2005
11
Acute pseudo-obstruction of the small intestine following high-dose chemotherapy and stem cell support. 53 62
12972700 2003
12
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. 53 62
12189494 2002
13
Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation. 53 62
11026454 2000
14
Intestinal pseudo-obstruction and ischemia secondary to both beta 2-microglobulin and serum A amyloid deposition. 53 62
7675780 1995
15
Intestinal pseudo-obstruction in patients with amyloidosis: clinicopathologic differences between chemical types of amyloid protein. 53 62
8244111 1993
16
Gender Disparity in Surgical Device Patents: A Five-year Trend From Canada and the United States. 62
36027658 2022
17
Impact of post-operative paralytic ileus on post-operative outcomes after surgery for colorectal cancer: a single-institution, retrospective study. 62
35429250 2022
18
Intestinal pseudo-obstruction caused by Giardia lamblia infection. 62
36323453 2022
19
[Intestinal pseudo-obstruction: An infrequent manifestation of cytomegalovirus infection]. 62
36253305 2022
20
Clostridium difficile colitis and peritoneal dialysis associated peritonitis: 'Difficile' treatment considerations. 62
36350040 2022
21
Intestinal pseudo-obstruction in systemic lupus erythematosus: an analysis of nationwide inpatient sample. 62
35819642 2022
22
Prone Transpsoas Lateral Lumbar Interbody Fusion for Degenerative Lumbar Spine Disease: Case Series With an Operative Video Using Fluoroscopy-Based Instrument Tracking Guidance. 62
36227242 2022
23
Current pharmacotherapeutic strategies for Strongyloidiasis and the complications in its treatment. 62
35983698 2022
24
Scientific evidence of the duration of antibiotic treatment in intra-abdominal infections with surgical focus control. 62
35760316 2022
25
Clinical profile and management of perforation peritonitis in Bharatpur hospital, Nepal: A prospective study. 62
36268443 2022
26
Procedural outcomes of laparoscopic caudate lobe resection: A systematic review and meta-analysis. 62
36245071 2022
27
The efficacy and safety of an adapted opioid-free anesthesia regimen versus conventional general anesthesia in gynecological surgery for low-resource settings: a randomized pilot study. 62
36280804 2022
28
Systemic lupus erythematosus following human papillomavirus vaccination: A case-based review. 62
35948863 2022
29
Intestinal pseudo-obstruction in systemic lupus erythematosus complicated by Castleman disease: a case report. 62
36388834 2022
30
Fecal microbiome in systemic sclerosis, in search for the best candidate for microbiota-targeted therapy for small intestinal bacterial overgrowth control. 62
36211209 2022
31
Enteric neurosphere cells injected into rectal submucosa might migrate caudorostrally to reconstitute enteric ganglia along the entire length of postnatal colon. 62
36210457 2022
32
Exploring the Association Between Paralytic Ileus and Endoscopic Retrograde Cholangiopancreatography Complications Using the National Inpatient Sample Database. 62
36407216 2022
33
Ischemic enteritis resulting from polycythemia vera. 62
35831680 2022
34
[Intestinal pseudo-obstruction: A rare presentation of congenital hypothyroidism]. 62
35578592 2022
35
Vitamin B12 deficiency presenting as intestinal pseudo-obstruction in short bowel syndrome: A case report. 62
36435090 2022
36
Intestinal pseudo-obstruction: A rare presentation of congenital hypothyroidism. 62
35643919 2022
37
Implementation of Routine Endoscopy with Narrow Band Imaging in the Evaluation of Oral and Upper Airways Lesions in Oral Chronic Graft-Versus-Host Disease: A Preliminary Study. 62
36294767 2022
38
Long-term follow-up for pediatric intestinal pseudo-obstruction patients in China. 62
36309477 2022
39
Chronic Intestinal Pseudo-Obstruction Is Associated with Intestinal Methanogen Overgrowth. 62
35001241 2022
40
Intestinal Pseudo-Obstruction Caused by Bilateral Medial Medullary Infarction. 62
36352679 2022
41
Massive colothorax secondary to intestinal pseudo-obstruction: an unusual cause of respiratory failure. 62
35393343 2022
42
Resolution of herpes zoster-induced small bowel pseudo-obstruction by epidural nerve block: A case report. 62
36186216 2022
43
A Systematic Review and Meta-Analysis of Harmonic Scalpel Versus Conventional Techniques of Appendiceal Stump Closure in Laparoscopic Appendicectomy. 62
36159348 2022
44
[A case of bromadiolone poisoning leading to digestive tract, abdominal hemorrhage and secondary paralytic ileus]. 62
36229221 2022
45
Effect of Reactive EGCs on Intestinal Motility and Enteric Neurons During Endotoxemia. 62
35773377 2022
46
Paralytic Ileus Mimicking Subacute Intestinal Obstruction as a Presentation of MIS-C. 62
35852702 2022
47
Combining BeEAM with Brentuximab Vedotin for High-Dose Therapy in CD30 Positive Lymphomas before Autologous Transplantation-A Phase I Study. 62
36143025 2022
48
Interstitial Lung Disease, Intestinal Pseudo-obstruction, Biliary Tract Dilatation in a Patient with Sjogren's Syndrome. 62
36156754 2022
49
Paralytic ileus as first symptom of Miller Fisher syndrome: A case report. 62
36086690 2022
50
Robotic radical distal gastrectomy for gastric cancer using the soft coagulation scissors technique. 62
36169804 2022

Variations for Intestinal Pseudo-Obstruction

ClinVar genetic disease variations for Intestinal Pseudo-Obstruction:

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TFAP2B NM_003221.4(TFAP2B):c.602-5_606del DEL Pathogenic
1683496 GRCh37:
GRCh38: 6:50836056-50836065
2 ACTG2 NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) SNV Pathogenic
Pathogenic
132803 rs587777387 GRCh37: 2:74141962-74141962
GRCh38: 2:73914835-73914835
3 ACTG2 NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser) SNV Pathogenic
132797 rs587777383 GRCh37: 2:74136257-74136257
GRCh38: 2:73909130-73909130
4 ACTG2 NM_001615.4(ACTG2):c.770G>A (p.Arg257His) SNV Pathogenic
208792 rs797044959 GRCh37: 2:74141963-74141963
GRCh38: 2:73914836-73914836
5 ACTG2 NM_001615.4(ACTG2):c.113G>A (p.Arg38His) SNV Pathogenic
217521 rs869312168 GRCh37: 2:74128551-74128551
GRCh38: 2:73901424-73901424
6 CLMP NM_024769.5(CLMP):c.664C>T (p.Arg222Ter) SNV Pathogenic
50385 rs587776966 GRCh37: 11:122953808-122953808
GRCh38: 11:123083100-123083100
7 ACTG2 NM_001615.4(ACTG2):c.119G>A (p.Arg40His) SNV Pathogenic
132802 rs587777386 GRCh37: 2:74128557-74128557
GRCh38: 2:73901430-73901430
8 CLMP NM_024769.5(CLMP):c.29-2A>G SNV Pathogenic
264668 rs879253855 GRCh37: 11:122968662-122968662
GRCh38: 11:123097954-123097954
9 CLMP, LOC112042785 NM_024769.5(CLMP):c.508C>T (p.Arg170Ter) SNV Pathogenic
224071 rs765907815 GRCh37: 11:122954436-122954436
GRCh38: 11:123083728-123083728
10 ACTG2 NM_001615.4(ACTG2):c.968C>T (p.Pro323Leu) SNV Likely Pathogenic
1047916 GRCh37: 2:74143873-74143873
GRCh38: 2:73916746-73916746
11 MYH11, NDE1 NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) DEL Likely Pathogenic
627645 rs747392139 GRCh37: 16:15802687-15802687
GRCh38: 16:15708830-15708830
12 ACTG2 NM_001615.4(ACTG2):c.981G>T (p.Lys327Asn) SNV Uncertain Significance
1339480 GRCh37: 2:74143886-74143886
GRCh38: 2:73916759-73916759

Expression for Intestinal Pseudo-Obstruction

Search GEO for disease gene expression data for Intestinal Pseudo-Obstruction.

Pathways for Intestinal Pseudo-Obstruction

Pathways related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 13.02 SGO1 RET RAD21 NDE1 MYH11 MLNR
2 11.34 TLX2 TFAP2B SOX10
3 10.45 MYH11 LMOD1 ACTG2

GO Terms for Intestinal Pseudo-Obstruction

Biological processes related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanocyte differentiation GO:0030318 9.73 SOX10 EDNRB EDN3
2 vein smooth muscle contraction GO:0014826 9.62 EDNRB EDN3
3 neural crest cell migration GO:0001755 9.56 SOX10 RET EDNRB EDN3
4 posterior midgut development GO:0007497 9.46 RET EDNRB
5 regulation of biological quality GO:0065008 9.37 EDNRB EDN3
6 enteric nervous system development GO:0048484 9.23 TLX2 SOX10 RET EDNRB

Sources for Intestinal Pseudo-Obstruction

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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